Mutagenetix > Incidental Mutation

Incidental Mutation 'R6461:Abtb3'

517606

Institutional Source

Beutler Lab

Gene Symbol

Abtb3

Ensembl Gene

ENSMUSG00000020042

Gene Name

ankyrin repeat and BTB domain containing 3

Synonyms

Btbd11, 6330404E16Rik

MMRRC Submission

044390-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

R6461 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85222678-85496156 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85476428 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 903 (I903N)

Ref Sequence

ENSEMBL: ENSMUSP00000100944 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020231] [ENSMUST00000105306] [ENSMUST00000105307]

AlphaFold

Q6GQW0

Predicted Effect

unknown
Transcript: ENSMUST00000020231
AA Change: I784N

SMART Domains

Protein: ENSMUSP00000020231
Gene: ENSMUSG00000020042
AA Change: I784N

Domain	Start	End	E-Value	Type
low complexity region	101	109	N/A	INTRINSIC
Blast:H2B	122	173	3e-9	BLAST
low complexity region	174	194	N/A	INTRINSIC
Blast:H2A	195	261	6e-37	BLAST
low complexity region	262	285	N/A	INTRINSIC
low complexity region	292	344	N/A	INTRINSIC
Blast:H2A	350	384	9e-16	BLAST
ANK	608	637	2.74e-7	SMART
ANK	654	683	7.3e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000105306
AA Change: I434N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000100943
Gene: ENSMUSG00000020042
AA Change: I434N

Domain	Start	End	E-Value	Type
ANK	139	168	2.74e-7	SMART
ANK	185	214	7.3e-3	SMART
ANK	223	252	1.05e-3	SMART
ANK	266	296	2.21e3	SMART
BTB	459	558	5.38e-21	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000105307
AA Change: I903N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000100944
Gene: ENSMUSG00000020042
AA Change: I903N

Domain	Start	End	E-Value	Type
low complexity region	101	109	N/A	INTRINSIC
low complexity region	174	194	N/A	INTRINSIC
Blast:H2A	195	261	5e-37	BLAST
low complexity region	262	285	N/A	INTRINSIC
low complexity region	292	344	N/A	INTRINSIC
Blast:H2A	350	384	1e-15	BLAST
ANK	608	637	2.74e-7	SMART
ANK	654	683	7.3e-3	SMART
ANK	692	721	1.05e-3	SMART
ANK	735	765	2.21e3	SMART
BTB	928	1027	5.38e-21	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128338

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145323

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156123

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp12a	C	T	14: 56,610,695 (GRCm39)	R280C	probably damaging	Het
Dnmbp	A	G	19: 43,855,964 (GRCm39)		probably null	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fbxo40	T	C	16: 36,790,390 (GRCm39)	E240G	probably benign	Het
Gne	T	C	4: 44,060,078 (GRCm39)	D105G	probably damaging	Het
Grin2c	A	T	11: 115,146,522 (GRCm39)	M494K	possibly damaging	Het
Hnrnpk	A	G	13: 58,541,008 (GRCm39)		probably null	Het
Irf6	G	C	1: 192,849,779 (GRCm39)	G234R	probably damaging	Het
Lman2	A	G	13: 55,494,728 (GRCm39)	F347L	probably damaging	Het
Mcfd2	G	A	17: 87,565,494 (GRCm39)	T3I	probably benign	Het
Mon1b	A	G	8: 114,365,170 (GRCm39)	D166G	probably damaging	Het
Mup10	T	A	4: 60,538,078 (GRCm39)	M4L	unknown	Het
Or13c7b	T	C	4: 43,821,355 (GRCm39)	E2G	probably benign	Het
Or2h1b	C	T	17: 37,462,362 (GRCm39)	C167Y	probably damaging	Het
Or51s1	T	A	7: 102,558,235 (GRCm39)	R270S	possibly damaging	Het
Papln	A	G	12: 83,828,587 (GRCm39)		probably null	Het
Pelp1	A	T	11: 70,287,132 (GRCm39)	V522E	probably damaging	Het
Scn1a	T	C	2: 66,156,466 (GRCm39)	D481G	probably null	Het
Scube1	G	A	15: 83,496,628 (GRCm39)	T791I	probably damaging	Het
Sec24a	T	C	11: 51,604,373 (GRCm39)	I748V	possibly damaging	Het
Slc29a2	A	G	19: 5,077,768 (GRCm39)	T236A	probably benign	Het
Smarca4	T	A	9: 21,590,316 (GRCm39)	I1152N	probably damaging	Het
Syngap1	A	G	17: 27,183,822 (GRCm39)	I1026V	probably damaging	Het
Tnxb	G	T	17: 34,890,872 (GRCm39)	R405L	probably damaging	Het
Zbtb11	G	A	16: 55,827,234 (GRCm39)	R900H	probably damaging	Het
Zfp142	T	C	1: 74,606,344 (GRCm39)	K1639R	probably damaging	Het

Other mutations in Abtb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00666:Abtb3	APN	10	85,465,080 (GRCm39)	missense	possibly damaging	0.87
IGL01143:Abtb3	APN	10	85,490,335 (GRCm39)	splice site	probably benign
IGL01365:Abtb3	APN	10	85,469,680 (GRCm39)	missense	possibly damaging	0.75
IGL01409:Abtb3	APN	10	85,494,029 (GRCm39)	missense	possibly damaging	0.88
IGL01531:Abtb3	APN	10	85,465,069 (GRCm39)	splice site	probably benign
IGL01593:Abtb3	APN	10	85,490,339 (GRCm39)	splice site	probably benign
IGL01751:Abtb3	APN	10	85,490,366 (GRCm39)	missense	probably damaging	1.00
IGL01752:Abtb3	APN	10	85,490,366 (GRCm39)	missense	probably damaging	1.00
IGL02041:Abtb3	APN	10	85,223,418 (GRCm39)	missense	unknown
IGL02486:Abtb3	APN	10	85,476,419 (GRCm39)	missense	probably damaging	1.00
IGL02597:Abtb3	APN	10	85,469,665 (GRCm39)	missense	probably damaging	1.00
IGL02957:Abtb3	APN	10	85,467,150 (GRCm39)	splice site	probably benign
IGL02957:Abtb3	APN	10	85,469,701 (GRCm39)	missense	probably damaging	1.00
IGL02967:Abtb3	APN	10	85,469,646 (GRCm39)	missense	probably benign	0.11
IGL02975:Abtb3	APN	10	85,467,207 (GRCm39)	missense	probably benign	0.16
IGL03078:Abtb3	APN	10	85,468,027 (GRCm39)	missense	probably damaging	1.00
IGL03130:Abtb3	APN	10	85,224,347 (GRCm39)	splice site	probably null
IGL03335:Abtb3	APN	10	85,494,222 (GRCm39)	utr 3 prime	probably benign
R0024:Abtb3	UTSW	10	85,223,311 (GRCm39)	missense	unknown
R0599:Abtb3	UTSW	10	85,494,200 (GRCm39)	missense	probably damaging	1.00
R0655:Abtb3	UTSW	10	85,481,390 (GRCm39)	missense	probably damaging	1.00
R0660:Abtb3	UTSW	10	85,224,234 (GRCm39)	missense	possibly damaging	0.65
R0664:Abtb3	UTSW	10	85,224,234 (GRCm39)	missense	possibly damaging	0.65
R1155:Abtb3	UTSW	10	85,465,155 (GRCm39)	missense	probably damaging	1.00
R1244:Abtb3	UTSW	10	85,223,227 (GRCm39)	missense	unknown
R1389:Abtb3	UTSW	10	85,476,460 (GRCm39)	missense	possibly damaging	0.76
R1418:Abtb3	UTSW	10	85,481,442 (GRCm39)	missense	probably damaging	1.00
R1703:Abtb3	UTSW	10	85,223,248 (GRCm39)	missense	unknown
R1957:Abtb3	UTSW	10	85,469,563 (GRCm39)	missense	probably damaging	1.00
R2519:Abtb3	UTSW	10	85,487,475 (GRCm39)	missense	probably damaging	1.00
R3716:Abtb3	UTSW	10	85,397,392 (GRCm39)	missense	probably damaging	1.00
R3915:Abtb3	UTSW	10	85,468,134 (GRCm39)	missense	probably damaging	1.00
R4738:Abtb3	UTSW	10	85,463,112 (GRCm39)	nonsense	probably null
R4782:Abtb3	UTSW	10	85,490,414 (GRCm39)	missense	probably damaging	1.00
R4846:Abtb3	UTSW	10	85,465,130 (GRCm39)	missense	probably damaging	1.00
R4887:Abtb3	UTSW	10	85,223,242 (GRCm39)	missense	unknown
R4960:Abtb3	UTSW	10	85,487,526 (GRCm39)	missense	probably benign	0.34
R5224:Abtb3	UTSW	10	85,481,386 (GRCm39)	small deletion	probably benign
R5341:Abtb3	UTSW	10	85,223,236 (GRCm39)	missense	unknown
R5713:Abtb3	UTSW	10	85,487,516 (GRCm39)	missense	probably damaging	1.00
R6046:Abtb3	UTSW	10	85,223,947 (GRCm39)	missense	unknown
R6809:Abtb3	UTSW	10	85,467,240 (GRCm39)	missense	probably benign	0.01
R7069:Abtb3	UTSW	10	85,223,520 (GRCm39)	missense	unknown
R7130:Abtb3	UTSW	10	85,223,419 (GRCm39)	missense	unknown
R7202:Abtb3	UTSW	10	85,223,629 (GRCm39)	missense	unknown
R7275:Abtb3	UTSW	10	85,490,346 (GRCm39)	missense	probably damaging	1.00
R7489:Abtb3	UTSW	10	85,463,079 (GRCm39)	missense	probably damaging	1.00
R7743:Abtb3	UTSW	10	85,460,813 (GRCm39)	missense	possibly damaging	0.95
R7873:Abtb3	UTSW	10	85,466,989 (GRCm39)	missense	possibly damaging	0.74
R8155:Abtb3	UTSW	10	85,476,473 (GRCm39)	critical splice donor site	probably null
R8306:Abtb3	UTSW	10	85,434,409 (GRCm39)	nonsense	probably null
R8812:Abtb3	UTSW	10	85,463,113 (GRCm39)	missense	probably damaging	0.99
R8891:Abtb3	UTSW	10	85,223,958 (GRCm39)	missense	unknown
R9068:Abtb3	UTSW	10	85,223,762 (GRCm39)	missense	unknown
R9800:Abtb3	UTSW	10	85,224,079 (GRCm39)	missense	unknown
X0020:Abtb3	UTSW	10	85,467,216 (GRCm39)	missense	possibly damaging	0.86
Z1088:Abtb3	UTSW	10	85,223,721 (GRCm39)	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- TATGCTCCAGGAGGACAGTG -3'
(R):5'- TAAAGAGATTTACCACCTGCTGAAG -3'

Sequencing Primer
(F):5'- CAGGAGGACAGTGACCGTTC -3'
(R):5'- CTGCTGAAGGAGAACTCATTTC -3'

Posted On

2018-05-21